Expertise and current research performed: The Cologne Center for Genomics (CCG) represents one of the main national genotyping platforms of the German Genome Research Network. The neurogenetics group has a long track record in gene mapping studies of neuropsychiatric disorders, and, in particular, molecular genetic studies on common IGE syndromes. Since 1999 genome-wide linkage studies have been performed in 279 IGE-multiplex families, which were collected by an European concerted action. T. Sander is an experienced epileptologist with extensive expertise in molecular genetics and biostatistical methods of linkage and linkage disequilibrium mapping. Current molecular genetic studies are supported by two grants funded by the Deutsche Forschungsgemeinschaft (DFG) and the Federal Ministry of Education, Research and Technology (BMBF).

Facilities/Equipment: The CCG is equipped for high-throughput genotyping of SNPs and STR polymorphisms. List of equipment: one ABI 3730 Sequence Analyzer, 5 ABI 9700 PCR Thermocycler, one ABI Prism 7900 HT System, Pyrosequencing, TaqMan, SNPstream, array-based technologies for genome-wide SNP genotyping technologies (Affymetrix, Illumina) and comparative genomic hybridisation, bioinformatics unit.

Personnel involved in the project

Thomas Sander, (M). Dr. (MD). Senior scientist. Head of the neurogenetics group. He has a long track record in molecular genetic studies on common IGE syndromes. Thomas Sander is an experienced epileptologist and molecular geneticist. His expertise also comprises biostatistical methods of linkage and linkage disequilibrium mapping.

Peter Nürnberg, (M) Full professor, human genetics. Head of the CCG. Research interests: linkage and linkage disequilibrium mapping of Mendelian and genetically complex traits, genomic copy number variations. Janine Altmüller, (F) geneticist. Research interests: linkage and linkage disequilibrium mapping of genetically complex traits. Mohammad Toliat, (M) biologist. Research interests: high-throughput genotyping technologies, quantitative allele specific gene expression. Christian Becker, (M) biotechnologist. Research interests: array-based genotyping and expression analyses. Andreas Wollstein (M) bioinformatician. Research interests: Statistical analyses of complex genetics traits; data management. Elisabeth Kirst, (F) research technician. Nina Dalibor, (F) research technician. Peter Wolf, (M) Danish Epilepsy Centre. M.D. Professor of epileptology at the Danish Epilepsy Centre and the National Hospital in Copenhagen. Previously, medical director of Bethel Epilepsy Centre, Germany. Working in the field since around 1975. Research interests within many areas of epileptology. The Danish Epilepsy Centre, Dianalund is the only epilepsy hospital in Denmark. Patients are received from the whole country, and most patients are difficult to diagnose, classify or treat. Christian Hansen (M) M.D., medical director at the Danish Epilepsy Centre, Dianalund. Working in the field of epileptology since 1999. Main research interest is the genetics of epilepsy. Moeller Rikke (F). Ph.D. student. Master of biomedicine. Main research interest is genetics of epilepsy. Ulrich Stephani (M), University Hospital, Kiel. Prof. Dr. (medicine), director of the Department of Neuropediatrics and director of the epilepsy centre for children and adolescents at University of Kiel (both since 1992). Working in pediatric epileptology since 1989. Research interests are: Clinical, neurophysiologic and (molecular) genetic characterisation and therapy of epilepsy syndromes and other paroxysmal disorders. Treatment studies in epileptology. Neurophysiology of headache/migraine. The Department of Neuropediatrics and the associated Epilepsy centre for children and adolescents is the reference center in the field of non-surgical pediatric and adolescent epileptology and other paroxysmal disorders in Northern Germany. Since about five decades clinical and molecular genetics in epileptology concerning epilepsy syndromes and electroencephalography are the major focus. A large family cohort with different epilepsy phenotypes and EEG-endophenotypes has been collected and carefully recorded (incl. storage of DNA samples of the family members). Specific activities deal with functional MRI in combination with EEG in patients with focal epilepsies. Mark Gardiner (M), University College London. MB BCh (1972). Professor of Paediatrics at UCL from 1991. Working in field of molecular genetics since 1986. Research interests in molecular genetics of inherited disorders of childhood onset with a focus on neurogenetics including genetics of epilepsies and neuronal ceroid lipofuscinoses.

Recent relevant publications/patents

1.       Hempelmann A, Taylor KP, Heils A, Lorenz S, et al. (2006) Exploration of the genetic architecture of idiopathic generalized epilepsy. Epilepsia 47:1682-90.

2.       Tauer U, Lorenz S, Lenzen KP, Heils A, Stephani U, Sander T (2005) Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy. Ann. Neurol. 57:866-73.

3.       Lenzen KP, Heils A, Lorenz S, Hempelmann A, Sander T (2005) Association analysis of the malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy. Epilepsia 46:1637-41.

4.       Haug K, Warnstedt M, Alekov AK, Sander T, et al. (2003) Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet. 33:527-32.

5.       Kananura C, Haug K, Sander T, et al. (2002) A splice-donor-site mutation in GABRG2 causes childhood absence epilepsy and febrile convulsions. Arch Neurol. 59:1137-41.